Deafness – enamel hypoplasia – nail defects (Q59082): Difference between revisions

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Latest revision as of 06:37, 14 August 2026

This syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.

Language	Label	Description	Also known as
default for all languages	ID_1277620176
English	Deafness – enamel hypoplasia – nail defects	This syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.